Canonical Allele Identifier: CA4306366

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 465273
• ClinVar RCV Id: RCV000558321 ; RCV000711974 ; RCV001172546 ; RCV002350273
• dbSNP Id: rs145243219
• ExAC: 7:75933126 C / G
• gnomAD v2: 7-75933126-C-G
• gnomAD v3: 7-76303809-C-G
• gnomAD v4: 7-76303809-C-G
• MyVariant Identifiers: chr7:g.75933126C>G (hg19) ; chr7:g.76303809C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303809C>G , CM000669.2:g.76303809C>G	GRCh38
NC_000007.13:g.75933126C>G , CM000669.1:g.75933126C>G	GRCh37
NC_000007.12:g.75771062C>G	NCBI36
NG_008995.1:g.6252C>G , LRG_248:g.6252C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.372C>G MANE Select	ENSP00000248553.6:p.His124Gln
ENST00000674547.1:c.372C>G	ENSP00000502461.1:p.His124Gln
ENST00000674638.1:c.367C>G	ENSP00000502651.1:p.Arg123Gly
ENST00000674650.1:c.365-175C>G	ENSP00000501628.1:n.365-175C>G
ENST00000674965.1:c.*28C>G	ENSP00000501765.1:n.*28C>G
ENST00000675134.1:c.372C>G	ENSP00000501831.1:p.His124Gln
ENST00000675226.1:c.371C>G	ENSP00000502510.1:p.Thr124Arg
ENST00000675417.1:n.605C>G
ENST00000675538.1:c.407C>G	ENSP00000502495.1:p.Thr136Arg
ENST00000675906.1:c.372C>G	ENSP00000502714.1:p.His124Gln
ENST00000676195.1:n.88C>G
ENST00000676231.1:c.402C>G	ENSP00000502249.1:p.His134Gln
ENST00000248553.6:c.372C>G	ENSP00000248553.6:p.His124Gln
ENST00000429938.1:c.-133C>G	ENSP00000405285.1:n.-133C>G
ENST00000447574.1:c.*536C>G	ENSP00000414357.1:n.*536C>G
NM_001540.3:c.372C>G , LRG_248t1:c.372C>G	NP_001531.1:p.His124Gln
NM_001540.4:c.372C>G	NP_001531.1:p.His124Gln
NM_001540.5:c.372C>G MANE Select	NP_001531.1:p.His124Gln